What are the other Names for this Condition? (Also known as/Synonyms)

• DCCD (Dermochondrocorneal Dystrophy)
• Dermochondrocorneal Dystrophy (DCCD)
• Francois Syndrome

What is Dermochondrocorneal Dystrophy of François? (Definition/Background Information)

• Dermochondrocorneal Dystrophy of François is a highly uncommon disorder that is characterized by bone and cartilage development issues (osteochondrodystrophy) of the hands and feet, corneal dystrophy, the presence of skin nodules on the finger and toe joints, along-with gingival overgrowth (hypertrophy of the gum tissue)
• Dermochondrocorneal Dystrophy of François is a genetic disorder that is transmitted in an autosomal recessive manner. The condition is typically incurable but may be managed symptomatically via medications and surgery. The outcomes may be good with appropriate treatment

Who gets Dermochondrocorneal Dystrophy of François? (Age and Sex Distribution)

• Dermochondrocorneal Dystrophy of François is an extremely rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Dermochondrocorneal Dystrophy of François? (Predisposing Factors)

• A positive family history may be an important risk factor, since Dermochondrocorneal Dystrophy of François can be inherited
• Currently, no other risk factors have been clearly identified for the disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Dermochondrocorneal Dystrophy of François? (Etiology)

• The exact gene mutation that causes Dermochondrocorneal Dystrophy of François is currently unknown
• The disorder is inherited in an autosomal recessive manner

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected)

What are the Signs and Symptoms of Dermochondrocorneal Dystrophy of François?

The signs and symptoms of Dermochondrocorneal Dystrophy of François may vary from one individual to another and may include:

• Abnormality of the hand and foot
• Skin nodules
• Presence of numerous xanthomas due to lipid accumulation in skin cells (xanthomatosis)
• Cataracts
• Decrease in visual acuity
• Vision impairment due to corneal opacity
• Overgrowth of the gums

How is Dermochondrocorneal Dystrophy of François Diagnosed?

Dermochondrocorneal Dystrophy of François is diagnosed on the basis of the following information:

• Physical examination of the individual and medical history evaluation
• Assessment of the presenting signs and symptoms
• Eye and vision exams
• Dermoscopy: Dermoscopy is a diagnostic tool where a dermatologist examines the skin using a special magnified lens
• Wood’s lamp examination: In this procedure, the healthcare provider examines the skin using ultraviolet light. It is performed to examine the change in skin pigmentation
• Radiological studies of the affected joints
• Skin biopsy, if necessary: A skin biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis
• Prenatal evaluations including abdominal ultrasound scans

A differential diagnosis may be necessary to eliminate other conditions that present similar signs and symptoms.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Dermochondrocorneal Dystrophy of François?

The complications of Dermochondrocorneal Dystrophy of François may include:

• Emotional stress
• Loss of vision
• Limb deformities
• Difficulty in performing simple daily tasks
• Reduced quality of life

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Dermochondrocorneal Dystrophy of François Treated?

There is no cure for Dermochondrocorneal Dystrophy of François, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that may develop. The treatments may include:

• Use of vision aids and surgery, if necessary, for eye abnormalities
• Topical agents and oral medications for skin lesions
• CO2 laser therapy
• Surgical correction of skeletal defects

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

How can Dermochondrocorneal Dystrophy of François be Prevented?

Dermochondrocorneal Dystrophy of François may not be preventable since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Dermochondrocorneal Dystrophy of François? (Outcomes/Resolutions)

• The prognosis of Dermochondrocorneal Dystrophy of François is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications. Typically, the prognosis is good with adequate treatment

Additional and Relevant Useful Information for Dermochondrocorneal Dystrophy of François:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/